Identification of TP53 as an acute lymphocytic leukemia susceptibility gene through exome sequencing.

TitleIdentification of TP53 as an acute lymphocytic leukemia susceptibility gene through exome sequencing.
Publication TypeJournal Article
Year of Publication2013
AuthorsPowell, BC, Jiang, L, Muzny, DM, Treviño, LR, Dreyer, ZE, Strong, LC, Wheeler, DA, Gibbs, RA, Plon, SE
JournalPediatr Blood Cancer
Volume60
Issue6
PaginationE1-3
Date Published2013 Jun
ISSN1545-5017
KeywordsExome, Female, Genetic Predisposition to Disease, Humans, Male, Pedigree, Precursor Cell Lymphoblastic Leukemia-Lymphoma, Tumor Suppressor Protein p53
Abstract

Although acute lymphocytic leukemia (ALL) is the most common childhood cancer, genetic predisposition to ALL remains poorly understood. Whole-exome sequencing was performed in an extended kindred in which five individuals had been diagnosed with leukemia. Analysis revealed a nonsense variant of TP53 which has been previously reported in families with sarcomas and other typical Li Fraumeni syndrome-associated cancers but never in a familial leukemia kindred. This unexpected finding enabled identification of an appropriate sibling bone marrow donor and illustrates that exome sequencing will reveal atypical clinical presentations of even well-studied genes.

DOI10.1002/pbc.24417
Alternate JournalPediatr Blood Cancer
PubMed ID23255406
PubMed Central IDPMC3926299
Grant ListR01 CA138836 / CA / NCI NIH HHS / United States
U54 HG003273 / HG / NHGRI NIH HHS / United States